ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.278T>C (p.Leu93Pro) (rs776035548)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628987 SCV000749897 uncertain significance Hypertrophic cardiomyopathy 2018-01-04 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 93 of the TNNI3 protein (p.Leu93Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs776035548, ExAC 0.002%). This variant has not been reported in the literature in individuals with TNNI3-related disease. A computational algorithm designed to assess the pathogenicity of variants in TNNI3 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Health, Inc RCV001179127 SCV001343734 uncertain significance Cardiomyopathy 2019-06-12 criteria provided, single submitter clinical testing

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